715316005: Neurogenic arthrogryposis multiplex congenita (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\...

\Joint movement absent\Neurogenic arthrogryposis multiplex congenita (disorder)

\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)

\Finding by site\Finding of body region\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Finding by site\Finding of body region\Finding of joint movement\Finding of range of joint movement\Joint movement absent\Neurogenic arthrogryposis multiplex congenita (disorder)
\Finding by site\Finding of body region\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurogenic arthrogryposis multiplex congenita (disorder)
\Disease\Disorder by body site (disorder)\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3302194018	Neurogenic arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3302195017	Neurogenic arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3302201013	A form of arthrogryposis multiplex congenital characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	US English: Preferred (foundation metadata concept)
3302202018	A form of arthrogryposis multiplex congenital characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3854321000052118	neurogen artrogrypos multiplex congenita	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurogenic arthrogryposis multiplex congenita (disorder)	Due to	Denervation atrophy of muscle	true	Inferred relationship	Some	3
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	Arthropathy associated with another disorder	false	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	Arthrogryposis	false	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	2
Neurogenic arthrogryposis multiplex congenita (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Neurogenic arthrogryposis multiplex congenita (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	2
Neurogenic arthrogryposis multiplex congenita (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	1
Neurogenic arthrogryposis multiplex congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Neurogenic arthrogryposis multiplex congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurogenic arthrogryposis multiplex congenita (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Neurogenic arthrogryposis multiplex congenita (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Neurogenic arthrogryposis multiplex congenita (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	2
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	Joint movement absent	true	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	4
Neurogenic arthrogryposis multiplex congenita (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	Is a	True	Neurogenic arthrogryposis multiplex congenita (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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